A functional polymorphism in the monoamine oxidase A gene promoter
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TLDR
A new polymorphism upstream of the gene for monoamine oxidase A, which consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies, may be useful as both a functional and an anonymous genetic marker for MAOA.Abstract:
We describe a new polymorphism upstream of the gene for monoamine oxidase A (MAOA), an important enzyme in human physiology and behavior. The polymorphism, which is located 1.2 kb upstream of the MAOA coding sequences, consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies. The polymorphism is in linkage disequilibrium with other MAOA and MAOB gene markers and displays significant variations in allele frequencies across ethnic groups. The polymorphism has been shown to affect the transcriptional activity of the MAOA gene promoter by gene fusion and transfection experiments involving three different cell types. Alleles with 3.5 or 4 copies of the repeat sequence are transcribed 2–10 times more efficiently than those with 3 or 5 copies of the repeat, suggesting an optimal length for the regulatory region. This promoter region polymorphism may be useful as both a functional and an anonymous genetic marker for MAOA.read more
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References
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Journal ArticleDOI
Preliminary evidence for an association of a dinucleotide repeat polymorphism at the MAOA gene with early onset alcoholism/substance abuse
TL;DR: Preliminary data suggest that further exploration of the relationship between the MAOA gene and behavioral traits in an expanded sample is warranted, with "long" alleles associated with both increased risk for the disorder and lower age of onset of substance abuse.
Journal ArticleDOI
Bidirectional promoter of human monoamine oxidase A (MAO A) controlled by transcription factor Sp1
TL;DR: The core promoter region of human monoamine oxidase (MAO) A has been identified in the two 90 bp repeat sequences, which can be further divided into four imperfect tandem repeats, each containing an Sp 1 binding site in the reversed orientation, indicating that Sp1 is a controlling factor for human MAO A expression.
Journal ArticleDOI
No evidence for allelic association between bipolar disorder and monoamine-oxidase A gene polymorphisms
TL;DR: Testing the hypothesis that DNA markers in the MAOA gene show allelic association with bipolar affective disorder found no evidence for allelic associations between any of the markers and bipolar disorder.
Journal ArticleDOI
Structure of the human gene for monoamine oxidase type A
Zheng-Yi Chen,Gökhan S. Hotamisligil,Jenq-Kuen Huang,Lisa Wen,Diala Ezzeddine,Nese Aydin-Muderrisoglu,Nese Aydin-Muderrisoglu,John Powell,Rosa H. Huang,Xandra O. Breakefield,Ian W. Craig,Yun-Pung P. Hsu,Yun-Pung P. Hsu +12 more
TL;DR: This work isolated human genomic clones spanning almost all the MAOA gene from cosmid and phage libraries using a cDNA probe for MAO-A and demonstrated that the longer message has an extension of 2.2 kb in the 3' noncoding region and appears to be generated by the use of two alternative polyadenylation sites.
Journal ArticleDOI
Gene for monoamine oxidase type A assigned to the human X chromosome.
John E. Pintar,J Barbosa,U Francke,Carmela M. Castiglione,Morris Hawkins,Xandra O. Breakefield +5 more
TL;DR: Evidence indicates that the structural gene for the flavin polypeptide of MAO-A is on the human X chromosome, which represents the first chromosomal assignment of a human gene coding for an enzyme of neurotransmitter metabolism.